A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001430



Internal ID6713566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:102694054..102699975hg38UCSC Ensembl
Outerchr13:103346404..103352325hg19UCSC Ensembl
Outerchr13:102144405..102150326hg18UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg383018
hg193018
hg183018
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564619
SamplesHuRef
Known GenesMETTL21C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001430
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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